| Dataset | HPO Gene-Disease Associations |
| Category | disease or phenotype associations |
| Type | phenotype |
| Description | A congenital defect of the macula distinct from coloboma associated with optic fissure closure defects. (Human Phenotype Ontology, HP_0001116) |
| External Link | http://compbio.charite.de/hpoweb/showterm?id=HP:0001116 |
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4 genes associated with the macular coloboma phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.